chr2-61869514-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_006430.4(CCT4):c.1531C>T(p.Pro511Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,611,758 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006430.4 missense
Scores
Clinical Significance
Conservation
Publications
- complex neurodevelopmental disorderInheritance: AD Classification: LIMITED Submitted by: G2P
- neurodevelopmental disorderInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 30 show subpopulations
GnomAD2 exomes AF: 0.00000796 AC: 2AN: 251362 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1459616Hom.: 0 Cov.: 28 AF XY: 0.00000413 AC XY: 3AN XY: 726284 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74328 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1531C>T (p.P511S) alteration is located in exon 13 (coding exon 13) of the CCT4 gene. This alteration results from a C to T substitution at nucleotide position 1531, causing the proline (P) at amino acid position 511 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at